Incidental Mutation 'R6753:Pcnx'
ID 530916
Institutional Source Beutler Lab
Gene Symbol Pcnx
Ensembl Gene ENSMUSG00000021140
Gene Name pecanex homolog
Synonyms 3526401J03Rik, 2900024E21Rik
MMRRC Submission 044870-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6753 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 81860023-82000924 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 81964480 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1238 (D1238E)
Ref Sequence ENSEMBL: ENSMUSP00000152104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021567] [ENSMUST00000221721] [ENSMUST00000222005]
AlphaFold Q9QYC1
Predicted Effect probably benign
Transcript: ENSMUST00000021567
AA Change: D1244E

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000021567
Gene: ENSMUSG00000021140
AA Change: D1244E

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
transmembrane domain 52 74 N/A INTRINSIC
low complexity region 369 390 N/A INTRINSIC
low complexity region 407 422 N/A INTRINSIC
low complexity region 509 525 N/A INTRINSIC
low complexity region 616 638 N/A INTRINSIC
low complexity region 672 692 N/A INTRINSIC
low complexity region 764 783 N/A INTRINSIC
low complexity region 817 835 N/A INTRINSIC
low complexity region 842 853 N/A INTRINSIC
low complexity region 911 922 N/A INTRINSIC
transmembrane domain 1006 1028 N/A INTRINSIC
transmembrane domain 1035 1052 N/A INTRINSIC
transmembrane domain 1070 1092 N/A INTRINSIC
transmembrane domain 1113 1135 N/A INTRINSIC
transmembrane domain 1163 1185 N/A INTRINSIC
transmembrane domain 1197 1216 N/A INTRINSIC
transmembrane domain 1269 1291 N/A INTRINSIC
transmembrane domain 1298 1315 N/A INTRINSIC
Pfam:Pecanex_C 1785 2011 1.6e-118 PFAM
low complexity region 2125 2140 N/A INTRINSIC
low complexity region 2195 2202 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000221675
AA Change: D605E

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably damaging
Transcript: ENSMUST00000221721
AA Change: D1238E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000222005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222828
Meta Mutation Damage Score 0.0699 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 99% (68/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an evolutionarily conserved transmembrane protein similar to the pecanex protein in Drosophila. The fly protein is a component of the Notch signaling pathway, which functions in several developmental processes. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk G A 11: 120,010,151 (GRCm38) P1083S probably benign Het
Abcb5 T A 12: 118,944,906 (GRCm38) N101I possibly damaging Het
Adrb2 A G 18: 62,179,553 (GRCm38) V67A possibly damaging Het
Agk T A 6: 40,368,570 (GRCm38) probably null Het
Akap10 A T 11: 61,886,777 (GRCm38) M586K probably damaging Het
Akt3 A T 1: 177,050,190 (GRCm38) Y337* probably null Het
Armc1 A G 3: 19,144,398 (GRCm38) F133L possibly damaging Het
Bank1 T C 3: 136,093,308 (GRCm38) E424G probably damaging Het
Cacna1a A G 8: 84,580,205 (GRCm38) E1363G probably damaging Het
Cacna1d C A 14: 30,042,786 (GRCm38) A2076S probably damaging Het
Ccdc73 T A 2: 104,991,524 (GRCm38) L606* probably null Het
Ccdc8 C T 7: 16,996,637 (GRCm38) Q684* probably null Het
Ces1b T A 8: 93,067,020 (GRCm38) K314* probably null Het
Ces1e T A 8: 93,215,128 (GRCm38) N238I probably damaging Het
Chd4 A G 6: 125,114,300 (GRCm38) N1238S probably benign Het
Cmtr2 T A 8: 110,222,979 (GRCm38) D640E probably damaging Het
Col7a1 C T 9: 108,958,128 (GRCm38) T559I unknown Het
Comt T C 16: 18,408,021 (GRCm38) K205R probably benign Het
Dbp A T 7: 45,708,404 (GRCm38) E232V probably damaging Het
Dcbld2 A G 16: 58,456,130 (GRCm38) T470A possibly damaging Het
Eml6 T A 11: 29,754,987 (GRCm38) D1519V probably damaging Het
Evpl T A 11: 116,237,906 (GRCm38) H31L possibly damaging Het
Exoc1 T A 5: 76,563,339 (GRCm38) I86N probably damaging Het
Fat3 C T 9: 15,915,061 (GRCm38) E4532K possibly damaging Het
Fgfr3 T C 5: 33,732,159 (GRCm38) S301P probably benign Het
Gas2l1 C T 11: 5,064,254 (GRCm38) V69I probably damaging Het
Gm2042 T A 12: 87,958,084 (GRCm38) I107K probably damaging Het
Gucy1b1 T C 3: 82,039,747 (GRCm38) D385G probably null Het
Ints1 T A 5: 139,765,175 (GRCm38) E824D probably damaging Het
Itfg1 T C 8: 85,835,078 (GRCm38) D142G probably benign Het
Jaml A G 9: 45,107,379 (GRCm38) N359D probably benign Het
Kcnh7 T A 2: 62,850,377 (GRCm38) I289L probably benign Het
Klf12 G A 14: 100,109,776 (GRCm38) Q40* probably null Het
Mcm4 A C 16: 15,629,362 (GRCm38) N579K possibly damaging Het
Mfsd2b A T 12: 4,867,358 (GRCm38) F179I possibly damaging Het
Mmp11 C T 10: 75,928,374 (GRCm38) V86M probably damaging Het
Mogs T C 6: 83,115,882 (GRCm38) V101A probably damaging Het
Narf T A 11: 121,242,626 (GRCm38) H84Q probably benign Het
Olfr987 C A 2: 85,331,798 (GRCm38) M33I probably benign Het
Otog A C 7: 46,249,071 (GRCm38) E204D probably benign Het
Parp8 G A 13: 116,895,115 (GRCm38) H354Y possibly damaging Het
Pi4ka A G 16: 17,376,982 (GRCm38) L184P possibly damaging Het
Pkd1l3 C T 8: 109,624,449 (GRCm38) T642I probably damaging Het
Pkhd1l1 G A 15: 44,589,663 (GRCm38) E3995K probably benign Het
Prdm9 A T 17: 15,544,956 (GRCm38) Y521N probably benign Het
Prex2 A G 1: 11,184,456 (GRCm38) S1105G probably damaging Het
Prss35 T A 9: 86,756,100 (GRCm38) F308I probably damaging Het
Rab22a C T 2: 173,701,055 (GRCm38) A167V probably benign Het
Rims2 A G 15: 39,566,973 (GRCm38) Q871R possibly damaging Het
Rorb A T 19: 18,957,247 (GRCm38) M253K probably benign Het
Ryr3 T C 2: 112,652,610 (GRCm38) D4269G probably damaging Het
Snx11 T C 11: 96,769,906 (GRCm38) probably benign Het
Son A G 16: 91,657,188 (GRCm38) Q941R probably damaging Het
Sptbn2 G T 19: 4,747,785 (GRCm38) R1880L probably benign Het
Sun1 G A 5: 139,215,259 (GRCm38) probably null Het
Tprn A G 2: 25,264,038 (GRCm38) R451G probably benign Het
Trbv30 T A 6: 41,281,377 (GRCm38) M1K probably null Het
Ttn C A 2: 76,738,221 (GRCm38) G25697W probably damaging Het
Ubb T G 11: 62,551,527 (GRCm38) probably null Het
Unc13b C T 4: 43,239,331 (GRCm38) R1038C probably damaging Het
Usp7 T C 16: 8,696,911 (GRCm38) M687V probably benign Het
Zfp160 G A 17: 21,020,734 (GRCm38) M21I probably benign Het
Zfp868 T C 8: 69,612,096 (GRCm38) N196S probably benign Het
Zufsp A T 10: 33,928,029 (GRCm38) I483N probably damaging Het
Other mutations in Pcnx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Pcnx APN 12 81,895,101 (GRCm38) missense probably damaging 0.98
IGL00561:Pcnx APN 12 81,996,053 (GRCm38) missense probably damaging 1.00
IGL01066:Pcnx APN 12 81,992,021 (GRCm38) missense possibly damaging 0.87
IGL01069:Pcnx APN 12 81,918,144 (GRCm38) missense probably benign 0.27
IGL01082:Pcnx APN 12 81,990,598 (GRCm38) missense possibly damaging 0.62
IGL01087:Pcnx APN 12 81,995,339 (GRCm38) splice site probably benign
IGL01145:Pcnx APN 12 81,992,035 (GRCm38) missense probably damaging 0.99
IGL01412:Pcnx APN 12 81,906,465 (GRCm38) missense probably damaging 1.00
IGL01477:Pcnx APN 12 81,973,241 (GRCm38) missense probably damaging 0.98
IGL01639:Pcnx APN 12 81,950,320 (GRCm38) critical splice donor site probably null
IGL01815:Pcnx APN 12 81,990,551 (GRCm38) missense probably damaging 1.00
IGL01870:Pcnx APN 12 81,975,893 (GRCm38) missense probably benign 0.01
IGL01902:Pcnx APN 12 81,979,094 (GRCm38) missense probably damaging 1.00
IGL01935:Pcnx APN 12 81,917,816 (GRCm38) missense probably benign 0.00
IGL02141:Pcnx APN 12 81,860,382 (GRCm38) missense possibly damaging 0.86
IGL02179:Pcnx APN 12 81,933,719 (GRCm38) intron probably benign
IGL02197:Pcnx APN 12 81,993,151 (GRCm38) missense possibly damaging 0.85
IGL02197:Pcnx APN 12 81,919,104 (GRCm38) missense probably benign 0.01
IGL02238:Pcnx APN 12 81,917,914 (GRCm38) missense probably damaging 1.00
IGL02430:Pcnx APN 12 81,919,322 (GRCm38) missense possibly damaging 0.89
IGL02590:Pcnx APN 12 81,994,978 (GRCm38) missense probably damaging 1.00
IGL02992:Pcnx APN 12 81,964,120 (GRCm38) missense probably damaging 1.00
IGL03304:Pcnx APN 12 81,982,029 (GRCm38) missense probably damaging 1.00
PIT4515001:Pcnx UTSW 12 81,991,787 (GRCm38) missense
R0086:Pcnx UTSW 12 81,992,058 (GRCm38) unclassified probably benign
R0114:Pcnx UTSW 12 81,996,095 (GRCm38) missense possibly damaging 0.95
R0240:Pcnx UTSW 12 81,947,018 (GRCm38) missense possibly damaging 0.67
R0240:Pcnx UTSW 12 81,947,018 (GRCm38) missense possibly damaging 0.67
R0376:Pcnx UTSW 12 81,974,579 (GRCm38) splice site probably benign
R0377:Pcnx UTSW 12 81,974,579 (GRCm38) splice site probably benign
R0416:Pcnx UTSW 12 81,974,466 (GRCm38) missense probably benign 0.09
R0514:Pcnx UTSW 12 81,995,110 (GRCm38) missense probably benign 0.21
R0563:Pcnx UTSW 12 81,917,944 (GRCm38) missense probably damaging 1.00
R0569:Pcnx UTSW 12 81,992,030 (GRCm38) missense probably benign 0.08
R0626:Pcnx UTSW 12 81,983,676 (GRCm38) missense possibly damaging 0.82
R0972:Pcnx UTSW 12 81,913,412 (GRCm38) missense probably damaging 1.00
R1205:Pcnx UTSW 12 81,956,243 (GRCm38) missense probably damaging 1.00
R1455:Pcnx UTSW 12 81,973,234 (GRCm38) missense probably damaging 1.00
R1514:Pcnx UTSW 12 81,918,798 (GRCm38) missense probably damaging 1.00
R1731:Pcnx UTSW 12 81,990,704 (GRCm38) missense probably damaging 1.00
R1758:Pcnx UTSW 12 81,983,484 (GRCm38) missense probably benign 0.27
R1774:Pcnx UTSW 12 81,975,320 (GRCm38) missense probably damaging 1.00
R1817:Pcnx UTSW 12 81,918,642 (GRCm38) missense probably benign
R1843:Pcnx UTSW 12 81,980,935 (GRCm38) missense probably damaging 1.00
R1862:Pcnx UTSW 12 81,918,732 (GRCm38) missense probably damaging 1.00
R2042:Pcnx UTSW 12 81,918,293 (GRCm38) missense probably damaging 1.00
R2054:Pcnx UTSW 12 81,933,674 (GRCm38) missense probably benign 0.02
R2243:Pcnx UTSW 12 81,918,705 (GRCm38) missense probably damaging 1.00
R2272:Pcnx UTSW 12 81,995,314 (GRCm38) missense probably benign 0.26
R2360:Pcnx UTSW 12 81,950,186 (GRCm38) missense probably damaging 0.99
R2926:Pcnx UTSW 12 81,994,995 (GRCm38) missense probably damaging 1.00
R3607:Pcnx UTSW 12 81,928,292 (GRCm38) missense probably damaging 1.00
R3781:Pcnx UTSW 12 81,996,118 (GRCm38) missense probably benign 0.00
R3782:Pcnx UTSW 12 81,996,118 (GRCm38) missense probably benign 0.00
R3806:Pcnx UTSW 12 81,950,137 (GRCm38) missense possibly damaging 0.84
R3926:Pcnx UTSW 12 81,958,731 (GRCm38) missense probably damaging 1.00
R4019:Pcnx UTSW 12 81,918,244 (GRCm38) missense probably damaging 1.00
R4020:Pcnx UTSW 12 81,918,244 (GRCm38) missense probably damaging 1.00
R4683:Pcnx UTSW 12 81,986,672 (GRCm38) missense probably benign 0.01
R4703:Pcnx UTSW 12 81,895,164 (GRCm38) missense probably benign 0.01
R4732:Pcnx UTSW 12 81,995,751 (GRCm38) missense probably benign 0.01
R4733:Pcnx UTSW 12 81,995,751 (GRCm38) missense probably benign 0.01
R4755:Pcnx UTSW 12 81,950,294 (GRCm38) missense probably damaging 1.00
R4792:Pcnx UTSW 12 81,919,151 (GRCm38) missense probably damaging 1.00
R4897:Pcnx UTSW 12 81,918,165 (GRCm38) missense probably damaging 1.00
R4915:Pcnx UTSW 12 81,974,495 (GRCm38) missense probably benign 0.10
R4934:Pcnx UTSW 12 81,991,825 (GRCm38) missense possibly damaging 0.76
R4940:Pcnx UTSW 12 81,917,793 (GRCm38) missense possibly damaging 0.60
R5079:Pcnx UTSW 12 81,979,089 (GRCm38) nonsense probably null
R5087:Pcnx UTSW 12 81,994,939 (GRCm38) missense probably damaging 1.00
R5284:Pcnx UTSW 12 81,919,029 (GRCm38) missense probably benign 0.02
R5287:Pcnx UTSW 12 81,982,051 (GRCm38) missense probably damaging 1.00
R5436:Pcnx UTSW 12 81,860,406 (GRCm38) missense probably damaging 1.00
R5505:Pcnx UTSW 12 81,950,153 (GRCm38) missense probably damaging 1.00
R5538:Pcnx UTSW 12 81,860,409 (GRCm38) missense probably damaging 1.00
R5632:Pcnx UTSW 12 81,917,730 (GRCm38) missense probably damaging 1.00
R5642:Pcnx UTSW 12 81,895,029 (GRCm38) missense possibly damaging 0.45
R5841:Pcnx UTSW 12 81,918,655 (GRCm38) missense possibly damaging 0.62
R6275:Pcnx UTSW 12 81,918,607 (GRCm38) missense probably benign 0.34
R6508:Pcnx UTSW 12 81,912,705 (GRCm38) missense probably damaging 0.98
R6532:Pcnx UTSW 12 81,980,964 (GRCm38) missense probably damaging 1.00
R6634:Pcnx UTSW 12 81,917,882 (GRCm38) nonsense probably null
R6776:Pcnx UTSW 12 81,962,722 (GRCm38) missense possibly damaging 0.81
R6778:Pcnx UTSW 12 81,918,871 (GRCm38) missense probably damaging 1.00
R6890:Pcnx UTSW 12 81,971,376 (GRCm38) missense probably benign 0.09
R6894:Pcnx UTSW 12 81,987,973 (GRCm38) missense probably damaging 1.00
R6927:Pcnx UTSW 12 81,917,812 (GRCm38) missense probably benign 0.37
R7173:Pcnx UTSW 12 81,953,003 (GRCm38) splice site probably null
R7196:Pcnx UTSW 12 81,995,538 (GRCm38) missense possibly damaging 0.94
R7316:Pcnx UTSW 12 81,995,549 (GRCm38) missense probably benign 0.16
R7559:Pcnx UTSW 12 81,993,122 (GRCm38) missense unknown
R7635:Pcnx UTSW 12 81,919,125 (GRCm38) missense
R7669:Pcnx UTSW 12 81,990,551 (GRCm38) missense probably damaging 1.00
R8021:Pcnx UTSW 12 81,918,819 (GRCm38) nonsense probably null
R8049:Pcnx UTSW 12 81,918,819 (GRCm38) nonsense probably null
R8078:Pcnx UTSW 12 81,975,280 (GRCm38) missense
R8093:Pcnx UTSW 12 81,918,819 (GRCm38) nonsense probably null
R8104:Pcnx UTSW 12 81,983,611 (GRCm38) nonsense probably null
R8108:Pcnx UTSW 12 81,918,819 (GRCm38) nonsense probably null
R8109:Pcnx UTSW 12 81,918,819 (GRCm38) nonsense probably null
R8131:Pcnx UTSW 12 81,918,518 (GRCm38) missense possibly damaging 0.80
R8136:Pcnx UTSW 12 81,918,006 (GRCm38) missense probably benign
R8153:Pcnx UTSW 12 81,918,819 (GRCm38) nonsense probably null
R8156:Pcnx UTSW 12 81,918,819 (GRCm38) nonsense probably null
R8202:Pcnx UTSW 12 81,895,047 (GRCm38) missense probably benign 0.00
R8362:Pcnx UTSW 12 81,967,056 (GRCm38) missense
R8515:Pcnx UTSW 12 81,962,716 (GRCm38) missense possibly damaging 0.83
R8803:Pcnx UTSW 12 81,993,151 (GRCm38) missense possibly damaging 0.85
R8820:Pcnx UTSW 12 81,973,248 (GRCm38) missense
R8828:Pcnx UTSW 12 81,995,823 (GRCm38) missense probably damaging 1.00
R8946:Pcnx UTSW 12 81,971,384 (GRCm38) missense probably damaging 0.96
R8964:Pcnx UTSW 12 81,993,038 (GRCm38) missense
R9152:Pcnx UTSW 12 81,975,815 (GRCm38) missense
R9256:Pcnx UTSW 12 81,973,273 (GRCm38) missense
R9287:Pcnx UTSW 12 81,995,549 (GRCm38) missense probably benign 0.07
R9289:Pcnx UTSW 12 81,982,079 (GRCm38) missense
R9414:Pcnx UTSW 12 81,918,204 (GRCm38) missense probably damaging 1.00
R9445:Pcnx UTSW 12 81,918,207 (GRCm38) missense probably damaging 0.98
R9595:Pcnx UTSW 12 81,918,914 (GRCm38) missense
R9600:Pcnx UTSW 12 81,983,661 (GRCm38) missense
R9620:Pcnx UTSW 12 81,950,186 (GRCm38) missense probably damaging 0.99
RF024:Pcnx UTSW 12 81,917,727 (GRCm38) missense probably damaging 0.98
Z1177:Pcnx UTSW 12 81,918,677 (GRCm38) missense
Z1177:Pcnx UTSW 12 81,918,202 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ATAGTCCAGGCAGCTCCTTC -3'
(R):5'- TAGCGTCCAGTCAAGACTTCTG -3'

Sequencing Primer
(F):5'- CTGCTCTGTCTGTGTTGAAAATAC -3'
(R):5'- GACTTTTGAGATGAAGGATGCTTACC -3'
Posted On 2018-08-01